(Q35794266)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

0 references

1 reference

Shin Hae Park

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Man Soo Kim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Hyojin Chae

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Yonggoo Kim

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Myungshin Kim

5

1 reference

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25 January 2020

publication date

19 February 2012

1 reference

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25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

488-494

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

Mutation spectrum of PAX6 in Chinese patients with aniridia.

25 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Clinical and molecular aspects of aniridia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Eye anomalies and neurological manifestations in patients with PAX6 mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

PAX6 gene variations associated with aniridia in south India

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Prenatal diagnosis of aniridia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Genotype/phenotype correlations in aniridia.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

27 July 2018

PAX6 mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Pax proteins and eye development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

A complex array of positive and negative elements regulates the chicken alpha A-crystallin gene: involvement of Pax-6, USF, CREB and/or CREM, and AP-1 proteins

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Molecular genetics of the Pax gene family.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Clinical features of Korean patients with congenital aniridia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Analysis of PAX6 gene in a Chinese family with congenital aniridia

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291524

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

25 September 2018

1 reference

12 December 2020

Management of aniridic keratopathy with keratolimbal allograft: a limbal stem cell transplantation technique

1 reference

12 December 2020

Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia

1 reference

12 December 2020

Effects of PAX6 mutations on retinal function: an electroretinographic study

1 reference

12 December 2020

Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22393275%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

22393275

1 reference